Format

Send to:

Choose Destination
  • Quoted phrase not found.

Abnormal Descemet membrane morphology

MedGen UID:
868919
Concept ID:
C4023330
Anatomical Abnormality
Synonym: Abnormality of Descemet's membrane
 
HPO: HP:0011490

Definition

Abnormality of Descemet's membrane, which is the basement membrane of the corneal endothelium. [from HPO]

Term Hierarchy

Conditions with this feature

Posterior polymorphous corneal dystrophy 1
MedGen UID:
343836
Concept ID:
C1852555
Disease or Syndrome
A posterior polymorphous corneal dystrophy that has material basis in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23.
Congenital hereditary endothelial dystrophy of the cornea
MedGen UID:
387857
Concept ID:
C1857569
Disease or Syndrome
Corneal endothelial dystrophy is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane (summary by Vithana et al., 2006).
Corneal dystrophy, Fuchs endothelial, 6
MedGen UID:
442478
Concept ID:
C2750448
Disease or Syndrome
Fuchs endothelial corneal dystrophy (FECD) is the most common genetic disorder of the corneal endothelium. Late-onset FECD is marked by thickening of Descemets membrane and excrescences, called guttae, that typically appear in the fourth or fifth decade. Disease progression results in decreased visual acuity as a result of increasing corneal edema, and end-stage disease is marked by painful epithelial bullae (summary by Riazuddin et al., 2013). For a discussion of genetic heterogeneity of Fuchs endothelial corneal dystrophy, see FECD1 (136800).
Anterior segment dysgenesis 6
MedGen UID:
934590
Concept ID:
C4310623
Disease or Syndrome
Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016). Anterior segment dysgenesis is sometimes divided into subtypes including aniridia (see 106210), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon (Gould and John, 2002). Patients with ASGD6 have been reported with the Peters anomaly subtype. Peters anomaly consists of corneal opacity, defects in the posterior structures of the cornea, and iridocorneal and/or keratolenticular adhesions. Over 50% of patients develop glaucoma in childhood (summary by Vincent et al., 2001).

Recent clinical studies

Etiology

Yoeruek E, Hofmann J, Bartz Schmidt KU
Acta Ophthalmol 2018 Dec;96(8):e970-e973. Epub 2018 Sep 21 doi: 10.1111/aos.13786. PMID: 30239156
Kocaba V, Mouchel R, Fleury J, Marty AS, Janin-Manificat H, Maucort-Boulch D, Burillon C
Cornea 2018 Mar;37(3):277-282. doi: 10.1097/ICO.0000000000001501. PMID: 29298168Free PMC Article
Weller JM, Schlötzer-Schrehardt U, Kruse FE, Tourtas T
Am J Ophthalmol 2016 Dec;172:1-6. Epub 2016 Sep 5 doi: 10.1016/j.ajo.2016.08.037. PMID: 27609713
Weller JM, Schlötzer-Schrehardt U, Tourtas T, Kruse FE
Am J Ophthalmol 2016 Sep;169:58-67. Epub 2016 Jun 16 doi: 10.1016/j.ajo.2016.06.013. PMID: 27318075
Obata H, Tsuru T
Cornea 2007 Oct;26(9 Suppl 1):S82-9. doi: 10.1097/ICO.0b013e31812f6f1b. PMID: 17881922

Diagnosis

Gupta S, Chaurasia AK, Sen S, Bhardwaj M, Mandal S, Titiyal JS, Gupta V
Cornea 2021 Feb 1;40(2):172-178. doi: 10.1097/ICO.0000000000002472. PMID: 32925426
Nicklason E, Mack H, Beltz J, Jacob J, Farahani M, Colville D, Savige J
Ophthalmic Genet 2020 Feb;41(1):13-19. Epub 2020 Mar 11 doi: 10.1080/13816810.2019.1709126. PMID: 32159412
Zhao T, Fang Z, Tian J, Liu J, Xiao Y, Li H, Chen B
Cornea 2019 Mar;38(3):332-337. doi: 10.1097/ICO.0000000000001844. PMID: 30601285
Yoeruek E, Hofmann J, Bartz Schmidt KU
Acta Ophthalmol 2018 Dec;96(8):e970-e973. Epub 2018 Sep 21 doi: 10.1111/aos.13786. PMID: 30239156
Weller JM, Schlötzer-Schrehardt U, Kruse FE, Tourtas T
Am J Ophthalmol 2016 Dec;172:1-6. Epub 2016 Sep 5 doi: 10.1016/j.ajo.2016.08.037. PMID: 27609713

Therapy

Kocaba V, Mouchel R, Fleury J, Marty AS, Janin-Manificat H, Maucort-Boulch D, Burillon C
Cornea 2018 Mar;37(3):277-282. doi: 10.1097/ICO.0000000000001501. PMID: 29298168Free PMC Article
Hau SC, Tuft SJ
Cornea 2009 Jul;28(6):703-5. doi: 10.1097/ICO.0b013e31818f9724. PMID: 19512897
Obata H, Tsuru T
Cornea 2007 Oct;26(9 Suppl 1):S82-9. doi: 10.1097/ICO.0b013e31812f6f1b. PMID: 17881922
Kenney MC, Chwa M
Cornea 1990 Apr;9(2):115-21. PMID: 2328580
Setälä K, Ruusuvaara P
Acta Ophthalmol (Copenh) 1989 Apr;67(2):211-5. doi: 10.1111/j.1755-3768.1989.tb00755.x. PMID: 2728870

Prognosis

Nicklason E, Mack H, Beltz J, Jacob J, Farahani M, Colville D, Savige J
Ophthalmic Genet 2020 Feb;41(1):13-19. Epub 2020 Mar 11 doi: 10.1080/13816810.2019.1709126. PMID: 32159412
Kocaba V, Mouchel R, Fleury J, Marty AS, Janin-Manificat H, Maucort-Boulch D, Burillon C
Cornea 2018 Mar;37(3):277-282. doi: 10.1097/ICO.0000000000001501. PMID: 29298168Free PMC Article
Weller JM, Schlötzer-Schrehardt U, Kruse FE, Tourtas T
Am J Ophthalmol 2016 Dec;172:1-6. Epub 2016 Sep 5 doi: 10.1016/j.ajo.2016.08.037. PMID: 27609713
Bruinsma M, Tong CM, Melles GR
Eye (Lond) 2013 Oct;27(10):1115-22. Epub 2013 Jul 12 doi: 10.1038/eye.2013.153. PMID: 23846374Free PMC Article
Obata H, Tsuru T
Cornea 2007 Oct;26(9 Suppl 1):S82-9. doi: 10.1097/ICO.0b013e31812f6f1b. PMID: 17881922

Clinical prediction guides

Lu Q, Peng RM, Feng N, Wen MD, He LH, Hong J
Exp Eye Res 2020 Aug;197:108125. Epub 2020 Jul 1 doi: 10.1016/j.exer.2020.108125. PMID: 32622067
Hutcheon AEK, Zieske JD, Guo X
Exp Eye Res 2019 Jul;184:183-191. Epub 2019 Apr 10 doi: 10.1016/j.exer.2019.04.003. PMID: 30980816Free PMC Article
Aldrich BT, Schlötzer-Schrehardt U, Skeie JM, Burckart KA, Schmidt GA, Reed CR, Zimmerman MB, Kruse FE, Greiner MA
Invest Ophthalmol Vis Sci 2017 Apr 1;58(4):2130-2138. doi: 10.1167/iovs.16-21094. PMID: 28395029
Bruinsma M, Tong CM, Melles GR
Eye (Lond) 2013 Oct;27(10):1115-22. Epub 2013 Jul 12 doi: 10.1038/eye.2013.153. PMID: 23846374Free PMC Article
Obata H, Tsuru T
Cornea 2007 Oct;26(9 Suppl 1):S82-9. doi: 10.1097/ICO.0b013e31812f6f1b. PMID: 17881922

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...
    Support Center